Crural ulcers at lower limbs: Acquired or genetic pathology?

The authors report a case of a 50-year-old man with bilateral, wide, crural ulcers of 1-year duration on the lower limbs. The patient experienced 3 transient ischemic attacks (TIAs), and instrumental exams revealed thrombotic events involving the kidney, lung, and central nervous system (CNS). The authors performed a thrombophilic screening, which indicated altered concentrations of C and S proteins and antithrombin III (AT III) and a single-base mutation (C677T) at the methylene tetrahydrofolate reductase gene (MTHFR). Methylene tetrahydrofolate reductase gene mutation may be associated with a coagulation system disorder. These data suggest that the MTHFR mutation may be responsible for cutaneous ulcer pathogenesis.